DANAK

Reg. No. 1024 Accreditation for medical examination

Page: 1
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IUPAC System Component Method Equipment/Principle Location
Genomic DNA from blood, CVS, amniotic fluid, saliva, tissue biopsy, cell culture
Genomisk DNA oprenset fra blod, CVS, amnion, spyt, vævsbiopsi, dyrkede celler 		DNA purification
DNA oprensning 		643888, 480517
643888, 480517 		DNA purification using MaxWell RSC or Tecan Freedom EVO
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO
Chromosomes from cell culture on blood, CVS, amniotic fluid and cultured cells (fibroblasts). Chromosomes without cell culture on blood, CVS, amniotic fluid.
Kromosomer fra celledyrkning på blod, CVS, amnion og dyrkede celler (fibroblaster). Kromosomer uden celledyrkning på blod, CVS og amnion. 		FISH
FISH 		515344, 67093, 69272, 423443
515344, 67093, 69272, 423443 		Cell culture, Fluorescense In Situ Hybridization
Celledyrkning, Fluorescens In Situ Hybridization
Genomic DNA from blood, CVS, amniotic fluid, tissue.
Genomisk DNA fra blod, CVS, amnion, væv. 		Array, SNP Genomewide CNV/LOH
Array, SNP Genomewide CNV/LOH 		1162140, 391667
1162140, 391667 		DNA purification, Chromosome Microarray on CytoScan 750K Accel, Applied Biosystems, Thermo Fisher Scientific.
DNA oprensning, Kromosom Mikroarray på CytoScan 750K Accel, Applied Biosystems, Thermo Fisher Scientific.
Genomic DNA from blood, amniotic fluid, CVS and cultured cells (fibroblasts).
Genomisk DNA fra blod, amnion, CVS og dyrkede celler (fibroblaster). 		Chromosomal analysis
Kromosomundersøgelse/Kromosomanalyse 		515344, 67093, 68058, 69272, 423443
515344, 67093, 68058, 69272, 423443 		Cell culture, DNA purification, Chromosomal analysis and FISH
Celledyrkning, DNA-oprensning, Kromosomundersøgelse og FISH
Genomic DNA from blood, CVS, amniotic fluid, tissue biopsy (product of conception, achilles tendon), fibroblasts (not cultured), cultured cells (also fibroblasts)
Genomisk DNA fra blod, CVS, amnion, vævsbiopsi (abortvæv, achillessene), fibroblaster (uden celledyrkning), dyrkede celler (også fibroblaster) 		Aneuploidy screening (13,18,21,X,Y);DNA
Aneuploidiscreen (13,18,21,X,Y);DNA 		515344, 67093, 175608, 261838
515344, 67093, 175608, 261838 		Cell culture, DNA purification, QF-PCR
Celledyrkning, DNA oprensning, QF-PCR.
Genomic DNA from blood, CVS, amniotic fluid and cultured cells (fibroblasts)
Genomisk DNA fra blod, CVS, amnion og dyrkede celler (fibroblaster) 		rsa 15q11.2q13;DNA Angelman/Prader Willi syndrome
rsa 15q11.2q13;DNA Angelman/Prader Willi syndrom 		515344, 67093, 181497, 417262
515344, 67093, 181497, 417262 		Cell culture, DNA purification, MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
Celledyrkning, DNA oprensning, MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi 		Temple syndrome
Temple syndrom 		181497, 417262
181497, 417262 		DNA purification, MS-MLPA (MRC Holland)
DNA oprensning, MS-MLPA (MRC Holland)
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi 		Kagami-Ogata syndrome
Kagami-Ogata syndrom 		181497, 417262
181497, 417262 		DNA purification, MS-MLPA (MRC Holland)
DNA oprensning, MS-MLPA (MRC Holland)
NPU19079 Genomic DNA from blood, CVS
Genomisk DNA fra blod, CVS 		FMR1-gene;DNA
FMR1-gen;DNA 		Fragile X syndrome 225073, 385586
Fragilt X syndrom 225073, 385586 		DNA purification, Fragment analysis using AmplideX FMR1 PCR kit on ABI 3730XL DNA Analyzer
DNA oprensning, Fragment analyse med AmplideX FMR1 PCR kit på ABI 3730XL DNA Analyzer
NPU35855 Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi 		Uniparental disomy, chromosome 7; DNA
Uniparental disomi, kromosom 7;DNA 		Uniparental disomy, chromosome 7 246379, 385425
Uniparental disomi, kromosom 7 246379, 385425 		DNA purification, Fragment analysis on ABI 3730 XL DNA Analyzer
DNA oprensning, Fragment analyse på ABI 3730 XL DNA Analyzer
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi 		Uniparental disomy, chromosome 14;DNA
Uniparental disomi, kromosom 14;DNA 		Uniparental disomy, chromosome 14 246379, 385425
Uniparental disomi, kromosom 14 246379, 385425 		DNA purification, Fragment analysis on ABI 3730 XL DNA Analyzer
DNA oprensning, Fragment analyse på ABI 3730 XL DNA Analyzer
Genoic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi 		Uniparental disomy, chromosome 15;DNA
Uniparental disomi, kromosom 15;DNA 		Uniparental disomy, chromosome 15 246379, 385425
Uniparental disomi, kromosom 15 246379, 385425 		DNA purification, Fragment analysis on ABI 3730 XL DNA Analyzer
DNA oprensning, Fragment analyse på ABI 3730 XL DNA Analyzer
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary Hemorrhagic Telangiectasia, HHT, panel Version 011122
Hereditær hæmorrhagisk telangiektasi, HHT, panel Version 011122 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary pancreatitis panel Version 011122.
Hereditær pancreatitis panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		PHEX-gene;DNA
PHEX-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		AIP-gene;DNA
AIP-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		CDH-gene; DNA
CDH-gen; DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		PTEN-gene; DNA
PTEN-gen; DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		STK11-gene; DNA
STK11-gen; DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		TP53-gene; DNA
TP53-gen; DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
NPU53990 Genomic DNA purified from plasma from pregnant mother.
Genomisk DNA oprenset fra plasma fra den gravide. 		NIPT
NIPT 		507419, 1117967, 509956
507419, 1117967, 509956 		DNA purification using QIAmp kit. Sample prep using Takara ThruPLEX Tag-Seq FLEX Kit. NGS using Illumina NovaSeq 6000. Bioinformatics using Wisecondor og SeqFF.
DNA oprensning med QIAmp kit. Sample prep med Takara ThruPLEX Tag-Seq FLEX Kit. NGS med Illumina NovaSeq 6000. Bioinformatik med Wisecondor og SeqFF.
Genomic DNA from blood
Genomisk DNA fra blod 		HMBS-gene;DNA
HMBS-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Erythropoietic Protoporphyria panel Version 011122
Erythropoietisk protoporfyri panel Version 011122 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		CPOX-gene;DNA
CPOX-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		UROS-gene;DNA
UROS-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		UROD-gene;DNA
UROD-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		PPOX-gene;DNA
PPOX-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Acute porphyria panel Version 011122
Akutte porfyrier panel Version 011122 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Alport syndrome panel Version 011122.
Alport syndrom panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Thin basement membrane disease Version 011122.
Tynd basalmembransygdom Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary mammary cancer Version 290126
Arvelig mammacancer panel Version 290126 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary melanoma panel Version 011122.
Arvelig malignt melanom panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary mammary and ovarian cancer panel Version 290126
Arvelig mamma og ovariecancer panel Version 290126 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Lynch syndrome panel Version 011122.
Lynch syndrom panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary ovarian cancer panel Version 290126
Arvelig ovariecancer panel Version 290126 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hereditary colorectal cancer/polyp panel Version 011122.
Arvelig colorectal cancer/polyp panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hyperinsulin hypoglyk 1,2,3,6 panel Version 011122.
Hyperinsulin hypoglyk 1,2,3,6 panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262
915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Hyperinsulin hypoglyk extended panel Version 011122.
Hyperinsulin hypoglyk udvidet panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262
915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Monogen diab. mel. MODY 1-5 panel Version 011122
Monogen diab. mel. MODY 1-5 panel Version 011122 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Monogen diab. mel. MODY 1-13 panel Version 190126
Monogen diab. mel. MODY 1-13 panel Version 190126 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Neonatal dia.mel. PNDM/TNDM panel Version 011122.
Neonatal dia.mel. PNDM/TNDM panel Version 011122. 		915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262
915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Neonatal dia.mel. PNDM/TNDM extended oanel Version 011122
Neonatal dia.mel. PNDM/TNDM udvpanel Version 011122 		915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262
915276, 987109, 62046, 771281, 935684, 667148, 282393, 181497, 417262 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		INS-gene;DNA
INS-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		INSR-gene;DNA
INSR-gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		FOXP3-gene;DNA
FOXP3gen;DNA 		915276, 987109, 62046, 771281, 935684, 667148, 282393
915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		EIF2AK3-gene;DNA
EIF2AK3-gen;DNA 		Wolcott-Rallison syndrome: 915276, 987109, 62046, 771281, 935684, 667148, 282393
Wolcott-Rallison syndrom: 915276, 987109, 62046, 771281, 935684, 667148, 282393 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood, CVS, amniotic fluid, tissue biopsy (product of conception, skin biopsy, achilles tendon)
Genomisk DNA fra blod, CVS, amnion, vævsbiopsi (abortvæv, hudbiopsi, achillessene) 		Genome, DNA
Genom;DNA 		775875 or 1066077, 849870, 553923
775875 eller 1066077, 849870, 553923 		DNA purification. NGS using Illumina NovaSeq 6000. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. NGS med Illumina NovaSeq 6000. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Known variant
Kendt variant 		915276, 987109, 62046, 771281, 935684, 667148, 282393, 1162140
915276, 987109, 62046, 771281, 935684, 667148, 282393, 1162140 		DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Array using CytoScan 750K Accel, Applied Biosystems, Thermo Fisher Scientific. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering og MLPA med ABI 3730XL DNA analyzer. Array på CytoScan 750K Accel, Applied Biosystems, Thermo Fisher Scientific. Bioinformatik med Illumina Dragen Bio-IT platform.